The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method

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dc.authoridYALCINTEPE, Sinem/0000-0002-8557-8885
dc.authorwosidDemir, Selma/A-1500-2018
dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorKaral, Yasemin
dc.contributor.authorDemir, Selma
dc.contributor.authorAtli, Emine Ikbal
dc.contributor.authorAtli, Engin
dc.contributor.authorEker, Damla
dc.contributor.authorMail, Cisem
dc.date.accessioned2024-06-12T11:15:31Z
dc.date.available2024-06-12T11:15:31Z
dc.date.issued2023
dc.departmentTrakya Üniversitesien_US
dc.description.abstractThis study aimed to define the copy numbers of SMN1 and SMN2 genes and the diagnosis rate and carrier frequency of spinal muscular atrophy (SMA) in the Thrace region of Turkey. In this study, the frequency of deletions in exons 7 and 8 in the SMN1 gene and SMN2 copy numbers were investigated. A total of 133 cases with the preliminary diagnosis of SMA and 113 cases with the suspicion of being an SMA carrier from independent families were analyzed by multiplex ligation-dependent probe amplification method for SMN1 and SMN2 gene copy numbers.SMN1 homozygous deletions were detected in 34 patients (25.5%) of 133 cases with the suspicion of SMA. Cases diagnosed with SMA type I was 41.17% (14/34), 29.4% (10/34) with type II, 26.4% (9/34) with type III, and 2.94% (1/34) with type IV. The SMA carrier rate was 46.01% in 113 cases. In 34 SMA cases, SMN2 copy numbers were: two copies - 28 cases (82.3%), three copies - 6 cases (17.6%). SMN2 homozygous deletions were detected in 15% (17/113) of carrier analysis cases. The consanguinity rate of the parents was 23.5% in SMA diagnosed cases. In this study, we had a 25.5% of SMA diagnosis rate and 46% SMA carrier frequency. The current study also showed the relatively low consanguinity rate of the Thrace region, with 23.5% according to the east of Turkey.en_US
dc.identifier.doi10.1055/s-0043-1770055
dc.identifier.endpage122en_US
dc.identifier.issn2699-9404
dc.identifier.issue2en_US
dc.identifier.pmid37332684en_US
dc.identifier.startpage117en_US
dc.identifier.urihttps://doi.org/10.1055/s-0043-1770055
dc.identifier.urihttps://hdl.handle.net/20.500.14551/23968
dc.identifier.volume10en_US
dc.identifier.wosWOS:001012207300002en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherThieme Medical Publ Incen_US
dc.relation.ispartofGlobal Medical Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectSpinal Muscular Atrophyen_US
dc.subjectSMN1en_US
dc.subjectSMN2en_US
dc.subjectCopy Numberen_US
dc.subjectConsanguinityen_US
dc.subjectSpinal Muscular-Atrophyen_US
dc.subjectMolecular Analysisen_US
dc.subjectPhenotypeen_US
dc.subjectGeneen_US
dc.titleThe Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Methoden_US
dc.typeArticleen_US

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